36. Interstitial lung disease associated with SFTPC gene mutation in identical twins: A case report
Main Article Content
Abstract
This report describes the clinical course and treatment during the first 8 months of life of twins who developed severe respiratory symptoms in infancy due to the SFTPC c.218T>C (p.Ile73Thr) mutation at Vietnam National Children's Hospital. We summarized the clinical data, thoracic computed tomography imaging, and genetic testing of this case, and reviewed the relevant literature. Both children showed signs of respiratory failure after birth and required mechanical ventilation. Afterwards, they experienced multiple episodes of respiratory failure and had severe respiratory symptoms due to infections such as SARS-CoV-2. The High-resolution computed tomography (HRCT) revealed consolidation and ground-glass opacities with small air cysts spreading to both lungs. Genetic testing detected that both children carried the c.218T>C (p.Ile73Thr) mutation on the SFTPC gene. The children were treated with a combination of Prednisolone and Hydroxychloroquine and were weaned off mechanical ventilation. This study reports a rare case of interstitial lung disease in a pair of twin carrying a rare genetic mutation in Vietnam who had limited response to conventional treatment.
Article Details
Keywords
Interstitial lung disease, chronic respiratory failure, SFTPC mutation
References
2. Moore KJ, D’Amore-Bruno MA, Korfhagen TR, et al. Chromosomal localization of three pulmonary surfactant protein genes in the mouse. Genomics. 1992; 12(2): 388-393. doi:10.1016/0888-7543(92)90389-A.
3. Sweet DG, Carnielli VP, Greisen G, et al. European Consensus Guidelines on the Management of Respiratory Distress Syndrome: 2022 Update. Neonatology. 2023; 120(1): 3-23. doi:10.1159/000528914.
4. SFTPC surfactant protein C [Homo sapiens (human)] - Gene - NCBI. Accessed September 17, 2023. https://www.ncbi.nlm.nih.gov/gene/6440.
5. Nathan N, Borensztajn K, Clement A. Genetic causes and clinical management of pediatric interstitial lung diseases. Curr Opin Pulm Med. 2018; 24(3): 253-259. doi:10.1097/MCP.0000000000000471.
6. Salerno T, Peca D, Menchini L, et al. Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation. Ital J Pediatr. 2016; 42:23. doi:10.1186/s13052-016-0235-x.
7. Park JS, Choi YJ, Kim YT, et al. Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation of SFTPC Successfully Treated with Lung Transplantation. J Korean Med Sci. 2018; 33(22). doi:10.3346/jkms.2018.33.e159.
8. Alzaid MA, Eltahir S, Amin Ur Rahman M, Alotaibi W, Mobaireek K. An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region. JRSM Open. 2020; 11(2): 2054270419894821. doi:10.1177/2054270419894821.
9. Diem L. Intersitial lung disease in chlidren with mutation in the SFTPC and SFPTB gene: A two case report. Eur Respir J. 2017; 50(suppl 61). doi:10.1183/1393003.congress-2017.PA549.
10. Mechri M, Epaud R, Emond S, et al. Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis. Pediatr Pulmonol. 2010; 45(10): 1021-1029. doi:10.1002/ppul.21289.
11. DeBoer EM, Liptzin DR, Humphries SM, et al. Ground glass and fibrotic change in children with surfactant protein C dysfunction mutations. Pediatr Pulmonol. 2021; 56(7): 2223-2231. doi:10.1002/ppul.25356.
12. van Hoorn J, Brouwers A, Griese M, Kramer B. Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress. BMJ Case Rep. 2014; 2014:bcr2013203053. doi:10.1136/bcr-2013-203053.
13. Hepping N, Griese M, Lohse P, Garbe W, Lange L. Successful treatment of neonatal respiratory failure caused by a novel surfactant protein C p.Cys121Gly mutation with hydroxychloroquine. J Perinatol. 2013; 33(6): 492-494. doi:10.1038/jp.2012.131.